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Universitas Medica

versão impressa ISSN 0041-9095
versão On-line ISSN 2011-0839

Resumo

GUAPI NAUNAY, Víctor Hugo; DE LA CRUZ JIMENEZ, Griselda Josefina  e  MERA BASTIDAS, Sandra Patricia. Rob(13; 15) (q10; q10) translocation: comments on a case. Univ. Med. [online]. 2018, vol.59, n.2, pp.32-36. ISSN 0041-9095.  http://dx.doi.org/10.11144/javeriana.umed59-2.tran.

Introduction:

Robertsonian translocation is defined as the fusion of two non-homologous acrocentric chromosomes, with a frequency of one case per 1000 newborns.

Case report:

A 31-year-old female patient with the following gynecological and obstetrical history: gestations: 7, abortions 6, births 0, cesareans 1, children alive 1, children dead 0. Pregnancy 1: 12-year-old daughter, with no dysmorphia, from the second gestation 11 years ago to the seventh gestation occurred this year, have ended in spontaneous abortions before the first 12 weeks of gestation. With a cytogenetic study that reports Robertsonian translocation, 45, XX, t (13/15).

Conclusion

The carrier of a Robertsonian translocation between chromosomes 13;15, an event that leads to early pregnancy loss or to the birth of a neonate with multiple defects.

Palavras-chave : habitual abortion; genetic translocation; karyotype.

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